title: P2X7 gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus.
abstract: The P2X(7) receptor is a ligand-gated cation-selective channel that mediates ATP-induced apoptosis of cells of the immune system. A loss-of-function single nucleotide polymorphism (SNP) at position 1513 (1513 A-->C) of the P2X(7) gene has recently been identified in both healthy and chronic lymphocytic leukemia (CLL) B-cells, translating into a loss of P2X(7)-mediated apoptosis in these cells. This antiapoptotic effect results in increased B-cell numbers, thereby potentially contributing to the survival of B-CLL clones. It was hypothesized that prolonged cell survival may also predispose to induction of autoimmunity. The objective of this study is to analyze the role of the P2X(7) receptor and its loss-of-function 1513 A-->C polymorphism (SNP) in the development of systemic lupus erythematosus (SLE). DNA samples obtained from patients with sporadic SLE were analyzed for the presence of the 1513 A-->C polymorphism using polymerase chain reaction (PCR) amplification and then direct sequencing. No significant difference in allele frequencies (1513 A-->C polymorphism) between sporadic cases of SLE and controls was found. A loss-of-function SNP at position 1513 (1513 A-->C) of the P2X(7) gene does not appear to be a susceptibility gene locus for the development of sporadic SLE.
authors.affiliation: Department of Medicine, Nepean Hospital, Sydney, NSW, Australia.
authors.forename: S L
authors.initials: SL
authors.lastname: Forchap
authors.forename: A
authors.initials: A
authors.lastname: Anandacoomarasamy
authors.forename: J
authors.initials: J
authors.lastname: Wicks
authors.forename: F
authors.initials: F
authors.lastname: Di Virgilio
authors.forename: O R
authors.initials: OR
authors.lastname: Baricordi
authors.forename: M
authors.initials: M
authors.lastname: Rubini
authors.forename: F
authors.initials: F
authors.lastname: Trotta
authors.forename: J
authors.initials: J
authors.lastname: Wiley
authors.forename: N
authors.initials: N
authors.lastname: Manolios
mesh_terms: D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018048:Receptors, Purinergic P2 / Q000235:genetics*; D058486:Receptors, Purinergic P2X7
chemical_list: C546468:P2RX7 protein, human; D018048:Receptors, Purinergic P2; D058486:Receptors, Purinergic P2X7